PADI2 Gene - Peptidyl Arginine Deiminase 2
Gene encoding a calcium-dependent enzyme that catalyzes citrullination, implicated in autoimmune and neurological disorders.
Gene Information Card
| Symbol | PADI2 |
|---|---|
| Full Name | Peptidyl Arginine Deiminase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 11240 ncbi.nlm.nih.gov/gene/11240 |
| Ensembl ID | ENSG00000117115 |
| UniProt ID | Q9Y2J8 |
| OMIM ID | 607722 |
| HGNC ID | 18368 |
| Aliases | PAD2, PAD-H19, PAD2_HUMAN |
Description
PADI2 encodes peptidyl arginine deiminase 2, a calcium-dependent enzyme that catalyzes the conversion of arginine residues to citrulline (citrullination) in proteins. This post-translational modification alters protein structure and function, playing roles in gene regulation, apoptosis, and immune responses. PADI2 is expressed in various tissues, including brain, muscle, and hematopoietic cells, and is implicated in autoimmune diseases such as rheumatoid arthritis and multiple sclerosis, as well as in cancer and neurodegeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | Citrullination of synovial proteins by PADI2 generates autoantigens that trigger immune responses. | OMIM 607722; NCBI Gene PMID: 12867035 |
| Multiple Sclerosis | PADI2-mediated citrullination of myelin basic protein may contribute to demyelination. | OMIM 607722; NCBI Gene PMID: 16880528 |
| Alzheimer Disease | Increased PADI2 expression and citrullination of tau and other proteins in brain. | NCBI Gene PMID: 21734253 |
| Breast Cancer | PADI2 overexpression correlates with poor prognosis; citrullination of histones may alter gene expression. | COSMIC; NCBI Gene PMID: 27149991 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Skeletal Muscle | 12.8 | Medium |
| Bone Marrow | 8.5 | Low |
| Lung | 6.3 | Low |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.7 | High expression in embryonic kidney cells |
| K562 | 9.2 | Moderate expression in leukemia cells |
| HeLa | 7.5 | Moderate expression in cervical cancer cells |
| HepG2 | 5.1 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1346G>A (p.Arg449Gln) | Missense | 0.01% (gnomAD) | Unknown functional effect; may alter calcium binding |
| c.1721C>T (p.Pro574Leu) | Missense | 0.005% (gnomAD) | Unknown functional effect |
| c.1963G>A (p.Val655Ile) | Missense | 0.02% (gnomAD) | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein-arginine deiminase activity (GO:0004668) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • zinc ion binding (GO:0008270) |
| • protein citrullination (GO:0050821) |
Pathways
• Citrullination pathway (Reactome: R-HSA-6798695)
• Protein modification in immune system (Reactome: R-HSA-168256)
Protein Summary
Peptidyl arginine deiminase 2 (PADI2) is a 665-amino acid calcium-dependent enzyme that converts arginine to citrulline in target proteins. It contains a conserved PAD domain and zinc-binding sites. PADI2 is involved in chromatin remodeling, apoptosis, and immune regulation. Its dysregulation is linked to autoimmune diseases and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PADI2 Knockout HEK293 Cell Line | EDJ-KQ3613 | Human | 11240 | Details Get a Quote |
| PADI2 Knockout HCT 116 Cell Line | EDJ-KQ18128 | Human | 11240 | Details Get a Quote |
| PADI2 Knockout A-549 Cell Line | EDJ-KQ25542 | Human | 11240 | Details Get a Quote |
| PADI2 Knockout HeLa Cell Line | EDJ-KQ55609 | Human | 11240 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
